ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq13.1(chrX:70974174-71207055)x2
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MED12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1646 | 1880 | |
NLGN3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
141 | 271 | |
CXorf65 | - | - | - |
GRCh38 GRCh37 |
1 | 128 |
FOXO4 | - | - |
GRCh38 GRCh37 |
22 | 150 | |
IL2RG | - | - |
GRCh38 GRCh37 |
404 | 583 | |
LOC113875038 | - | - | - | GRCh38 | - | 63 |
LOC121627975 | - | - | - | GRCh38 | - | 64 |
LOC126863274 | - | - | - | GRCh38 | - | 115 |
LOC126863275 | - | - | - | GRCh38 | - | 169 |
LOC130068406 | - | - | - | GRCh38 | - | 63 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 30, 2010 | RCV000136018.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023